Amnio - not somewhere I really wanted to be.....

[citizentwiglet]

Not fantastic news from Casa Twiglet...

Had a 14 week scan yesterday and it appears that there is a problem with the nuchal fold, which is showing that it is quite large. (4.8mm against a usual size of 2.9mm for 14 weeks)

There were lots of hushed voices, I was whisked off to the horrible 'counselling room', and there the doctor has delivered the news that there is around a 20 - 30% chance of chromosome abnormalities.

I don't know what to think. I'm devastated, but then I feel so very guilty about being so upset about it.

I'm booked in to have an amniocentisis on June 10th, I understand they grow trace chromosomes on in the lab to show what we are facing. IF there is a problem (and I have to keep reminding myself that there is 70 - 80% chance that there is nothing wrong, but that 20 - 30% just seems so huge at the moment, IYSWIM); then there is a 70% chance it is Down's Syndrome, 20% chance of Edwards' Syndrome (which is a horrible, fatal thing that may kill in the womb or within 10 months of pretty limited life) and a 10% chance of Turner's Syndrome.

My head is all over the place at the moment, I don't know what to think, what to feel. The 'spiritual' side of me tells me that this is happening for a reason unbeknownst to us, and that 'special' babies are sent to special parents (I read that somewhere and thought it was beautiful) - that there is a lesson in life here. The less nice side of me is worrying about more selfish things, to be honest. How we'd cope, how a child copes with stares, and bullying (both Babba and Ellis could be affected), how my baby might not be 'perfect' (which is horrible, frankly, isn't it?).

My nephew has CP - nobody could have predicted that, it was caused by a placental abruption; and we wouldn't be without him for the World. There is risk in everything, I know that. There are FAR worse things to deal with than Down's Syndrome, I know that too.....but I just can't get my head around it all.......

I've done what I always tell others NOT to do - I've been googling Nuchal Translucency tests and, to be honest, some of the medical profession don't seem to quite as 'upbeat' as my doctor and state that a nuchal oedema present at 14 weeks is unlikely to resolve and that there is almost 100% chance of some level of chromosomal abnormality, including heart defects; so I really don't know what to believe.

So sorry to have whined, but if you could send some vibes - not to me, but to my darling wee babba, who I already love so very, very much - I would really, really appreciate it.

Thanks xxxx

[Shirley]

Big hugs!!!!!

Firstly - try not to worry until you have had your amnio and got the results. I know of people that have got to this stage and found that the baby was absolutely FINE!

Secondly - it is absolutely normal to feel the way you are feeling about how you would feel if your baby isn't 'perfect' - I went through the same sort of feelings when we found that my son was going to be born with a bilateral cleft lip and palate (we were told that there was also risk of chromosomal problems such as Down's or Edward's syndromes amongst others). He didn't have any in the end, and other than the cleft lip and palate was just like any other baby. The stares ARE hard to cope with at first, there is no denying that but you soon come to terms with that and find ways of dealing with it, and educating others in the process. There are various support forums online that can be a HUGE help. You'd be better off looking at these rather than googling stuff and unearthing some scary stuff. (I did it too when I was pg and scared myself silly)

xxx

[mrsflibble]

I'm gonna try and be positive here:
It will only be Turner's if it's a girl, and many poeple live fairly normal lives with diseases like Turner's and Edward's. Also there are varying drgrees of any chromosomal abnormality, for instance Turner's sufferers can have what's called "mosaic Turner's" which eans they have some charecteristics like short but proportioned stature, a pixie-ish face, moles, problems with scarring, abnormal shaped heart (no problems except mild murmurs and an increased risk with general anaesthetics and it's slightly more pointed than a normal one), YET they don't have the infertility problems, in fact they can sometimes end up slightly overly developed in the boob region...

Downs can end up mild too, Edwards I'm not sure has any mosaic forms but I'm sure it's not all bad.

it's not a death sentence, or a bad quality of life sentence.
Can they offer you CVS (chorionic Villus Sampling) instead of an amnio? it's got slightly less risk but only some health care practices offer it.

[Clara]

HUGS HUGS HUGS......Try not to worry, if you have decided to have the amnio then you will find out for definite one way or the other very soon.

If it turns out that there is an anormality, whatever your decision, it must be YOUR decision. A child with a disability affects YOUR life, and however you decide to proceed that will be the right thing to do.

[citizentwiglet]

Thanks you lot!

MrsF, I'm too late on for a CVS - they wouldn't have advised one anyway because the miscarriage rate is around 4-6%, rather than a 1-2% risk with an amnio at 16 weeks.
I had been told by the Doctor that life-expectancy with Edwards was very limited, TBH. The majority die perinatally, but if they do survive birth most die before 10 months. There are exceptions, of course, but the longest living child died aged 7, apparently. And that, sadly, is often a life very much confined to a hospital ward.

On the plus side, the doctor did look at babba's heart. She admitted that 14 weeks was sometimes too early to see some anomolies, but she had picked some up at 14 weeks with other patients. Babba's heart - from what she could see - was fine, and heartbeat was normal rate (many chromosomal abnormalities show an increased heart rate). Thigh measurement was also OK; but she does have concerns about the feet as she couldn't find them long enough to make a measurement there, and was slightly concerned that one looked 'club', though admitted that it could have been the baby's position that caused that. There has been no mention of an absence of nasal bone either, which is usually an indication of DS. But they'll be doing an echocardiograph when they do the amnio so they'll know better then with regards to any heart defects.

I keep having to replay the words 'probably fine' in my head, over and over like a record....but at the same time I'm looking at preparing myself and the family for what is to come - there's nothing to be gained by being in denial, IYSWIM.

[Russian Doll]

massive hugs hunny....stay strong and positive..sending you and baby loads of vibes

[MrsD'ville]

Oh my goodness, what a tough thing. Huge hugs and the best vibes I can pump out. The thing I constantly come back to with this sort of thing is that with information you can make informed decisions. You're bound to be in tumult about the maybes and the possiblys. My husband and his first wife had an agony of waiting with my stepson, they were told all sorts of things, had an amnio, and of course now he's a perfect, stroppy 15 year old without so much as a mole in the wrong place. I know that's not always the case though, and as everyone has said nothing you feel is 'wrong' and in my personal opinion you have to sift all these thoughts in your mind, imagine all the scenarios and face them mentally. It's horrible but at least doing all that you know whatever happens that you didn't rush any decisions or alternatively sail along with your eyes closed.

I'm blathering and have to go and do stories, but I'm thinking of you.

[Annpan]

Hugs coming your way...

Best of luck with whatever happens and whatever you decide. Positive vibes to Babba too.

[citizentwiglet]

Thank you so much everyone for all your kind words xxxxx

[The Hopefuls]

keep your chin up hun and keep a smile on your face :)
stay strong and positive :)

[shae]

Big hugs to you and your family at this tough time.
A friend of mine had a wee bubby 4 weeks ago with Down Syndrome. Shes a first time mum and only 24. But her baby is perfect to her and shes besotted with him. He's exactly as he was ment to be.
All I'd say is find as much information as you can, at least having the amnio results will give you a better idea of what you're dealing with. But there are support groups out there with mums who have faced the exact same fears as you are now facing, lean on those who have been there before, I'm sure they'd be only to happy to lend an ear.

[CaundleMama]

Am also sending hugs at this worrying time ((((((((((hugs)))))))))))) x x x

you have said it all here poppet **who I already love so very, very much ***

you already love your baby,if anything comes up as a result of these tests,then you will cope,you wll make the decision thats best,thats best for you,your hubby,your children already,your baby.

Sometimes health care bods bombard us with too much information but the upside of that is we can start mulling eerything over in our,heads,exhausting but its a start to getting to a place where we can make decisions & think clearer & see the way forward.

I had tremendous worries with my twins,at a routine scan I was told the consultant thought E had had a brain haemorage & they had TTTS ,we went to the *Room* & sat there shocked as plans were laid out to travel to London to see Professor Fisk a top bod in identicals,he could do further detailed scans that would confirm if any brain damage & to some extent,what end of the scale it would be.They discussed terminating E,they discussed the fact as they were identical it would be 50/50 if that choice killed M.

Our heads were reeling then all of a sudden it became crystal clear to me,I wasnt going anywhere,they were going to deliver my babies there,& I would cope,we all would cope with whatever happened & if E was terribly terribly poorly then she may have passed on afterwards but I couldnt make that decision for her,she had to choose.

The consultant smiled & said he was pleased I was whisked off,steriods given to strengthen their wee lungs & they were delivered the next day at 32 weeks,perfectly strong,healthy,with no problems whatso ever from brains,being prem,having TTTS.

The night I spent before they were born was one I'll never forget,I sent hubby home exhausted & I lay there,oddly enough labour had started & I was hooked up to lots of wires I looked out of the window,up at the sky & all I felt was incredible love pouring from the sky down into me,pink,glowing,pure love.
All my family & friends & that inclded alot online friends were all sending their strength & love & it was real & I could feel it.

You will feel the same,you will feel everyones love I promise x

I think you are very brave posting all your worries & in a way I need t thankyou as its brought home to me very clearly this mornng how precious our children are & how very deeply we love them,in good times & not so good times.

Take care poppet & sending you so much love x x x x

[red]

oh hugs. not a fun place to be, keep in your head that the stats are still pretty favourable. I agree with Shirlz - there are good support groups out ther enad I do think the advice and experience of other parents is worth so much more than the Drs.
take care, and know that you have lots of support here.

[citizentwiglet]

No...thank YOU for sharing that story, it was moving and very, very beautiful.
We are feeling a lot more positive now, I think it takes a wee while for the shock and the 'what ifs?' to sink in. I do agree that sometimes they bombard you with a lot of information but, on the whole, I feel very fortunate that I am one of the seemingly few mums-to-be who is offered a nuchal translucency scan as routine - had it been a matter of going private, I don't think I would have done so for financial reasons (i.e. we're skint!), and I am extremely grateful that I have time to think, and plan and come to terms with what might be; even though of course it is still a very worrying few weeks, and time seems to be standing still at the moment. The results are still a month away, and that seems an age.

[Shirley]

CM - I remember that time so clearly! *wipes away a little tear* Give your girls a kiss for me